Canonical Allele Identifier: CA145844
Gene: GUCY2D HGNC NCBI
ClinGen Classification:
Classification Benign
Condition GUCY2D-related recessive retinopathy
VCEP Leber Congenital Amaurosis/early onset Retinal Dystrophy VCEP
ClinVar RCV:
RCV000078320
RCV000084902
RCV001518411
ClinVar Variation:
92581
COSMIC:
COSM4985381
dbSNP:
9905402
gnomAD v2:
17:7906426 T / C
gnomAD v3:
17:8003108 T / C
gnomAD v4:
chr17-8003108-T-C
Joint Max Group AF 0.25502416 (AFR)
Genomes Max Group AF 0.25365309 (AFR)
Exomes Max Group AF 0.25387987 (AFR)
MyVariant.info:
GRCh38 chr17:g.8003108T>C
GRCh37 chr17:g.7906426T>C
Revel Score:
ENST00000254854 (MANE Select) 0.141
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003108T>C , CM000679.2:g.8003108T>C GRCh38
NC_000017.10:g.7906426T>C , CM000679.1:g.7906426T>C GRCh37
NC_000017.9:g.7847151T>C NCBI36
NG_009092.1:g.5439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.61T>C MANE Select ENSP00000254854.4:p.Trp21Arg
ENST00000254854.4:c.61T>C ENSP00000254854.4:p.Trp21Arg
NM_000180.3:c.61T>C NP_000171.1:p.Trp21Arg
XM_011523816.1:c.61T>C XP_011522118.1:p.Trp21Arg
NM_000180.4:c.61T>C MANE Select NP_000171.1:p.Trp21Arg
Search 100 bp 5'
Search 100 bp 3'